Suppr超能文献

[Balanced translocation 8:10 and adrenogenital syndrome. Family study (author's transl)].

作者信息

del Mazo J, Martín M J, Abrisqueta J A, Aller V, Martín-Lucas M A, Pérez-Castillo A, de Torres M L

出版信息

An Esp Pediatr. 1980 Aug;13(8):710-3.

PMID:7436152
Abstract

An 8:10 translocation was found in a 15-day-old female child affected with adrenogenital syndrome. Some other members of the family also showed the same chromosomal anomaly. By G-, Q- and T-banding, break and fusion points were determined at the level of 8q21 and 10q24 bands. The hormone and enzymatic tests carried out in all the members of the family revealed a 21-hydroxylase deficiency only in the proposita. Possible relationship between the manifestation of syndrome and chromosomal anomaly are discussed.

摘要

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验